Phenotypic Variability and Hematological Characterization of β<sup>0</sup>- and β<sup>+</sup>-Thalassemia Carriers: A Comparative Study
Bibliographic record
Abstract
Background: β-Thalassemia is a genetic disorder characterized by decreased or completely absent β-globin synthesis, leading to a spectrum of clinical manifestations. It is a major public health concern in Jordan, as in other Mediterranean countries. β-Thalassemia carriers are normally asymptomatic; nevertheless, laboratory examinations often reveal mild anemia characterized by microcytic hypochromic erythrocytes, with differences influenced by specific phenotypes. This study aimed to assess and correlate the variants among β0 and β+ phenotypes in the Jordanian population with hematological characteristics, as well as establish and determine reference values for distinguishing between the two phenotypes. Methods: One hundred forty-five β-thalassemia carriers were recruited from various governorates in Jordan. Hematological parameters, including complete blood count (CBC) and capillary electrophoresis of hemoglobin (Hb), were evaluated in all participants. Molecular techniques, specifically polymerase chain reaction (PCR) with hybridization, were employed to identify β-thalassemia variants and classify the participants as having β0 and β+ phenotypes. Results: Among the 145 β-thalassemia carriers, 64 (44.14%) and 81 (55.86%) had β0-thalassemia and β+-thalassemia, respectively. Participants exhibiting a cutoff value of Hb (≤ 11.0 g/dL), mean corpuscular volume (MCV) (≤ 64.0 fL), mean corpuscular hemoglobin (MCH) (≤ 19.0 pg), and hemoglobin A2 (Hb-A2) (≥ 5.00%) were classified as having the β0 phenotype. These participants demonstrated significantly lower mean Hb, MCV, MCH, and higher mean Hb-A2 than the participants with the β+ phenotype (P < 0.0001). Conclusions: Hb, MCV, MCH, and Hb-A2 can serve as effective screening tools for predicting β0- and β+-thalassemia in the Jordanian population. These findings have important clinical implications for early diagnosis, genetic counseling, and prenatal screening of β-thalassemia.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".